THE NEW PARADIGM - A RESEARCH UPDATE FROM UCLA
“This is an exciting time for the Vision of Children Foundation and the researchers we are funding at UCLA.”
Sam Hardage, the Founder of The Vision of Children Foundation states, “Our scientists have found a new way to transfer genetic information into cells using pluripotent stem cells, derived from patients’ own skin cells, and gene editing technology. This groundbreaking new process has the potential to enable scientists to use gene therapy to correct genetic vision disorders and other eye diseases. Our scientists are changing the paradigm for genetic research.”
The research project of Dr. Edouard Baulier, a postdoctoral fellow in Dr. Debora Farber’s UCLA laboratory, is designed to find a treatment for Ocular Albinism type 1 (OA1) by using two recently discovered biology tools: induced pluripotent stem cells (iPSCs) and CRISPR/Cas9, a gene-editing tool.
iPSCs can give rise to virtually every cell of the body, including retinal pigment epithelial cells (RPE), the cells in which the OA1 gene is expressed. iPSCs generated from an OA1 patient’s skin carry the genetic mutation causing the patient’s disease. These new iPSCs can be transformed into cells 100% compatible with the patient’s immune system. In order to repair the mutated cells, these iPSCs need to have their pathologic mutation corrected, resulting in “normal” cells that can be transplanted back into the patient, restoring the defective function. The CRISPR/Cas9 system allows mutation correction of the iPSCs.
The work that Drs. Baulier and Farber are carrying out has the potential to impact the life of OA1 patients. By generating a human model of ocular albinism in the lab, this project will allow us to considerably improve the understanding of the disease and accelerate its treatment. In addition, this study will constitute a proof of principle for the correction of an OA1 mutation in a patient’s iPSCs, ultimately leading to the transplantation of fully functional and immune-compatible iPSC-derived RPE cells into OA1 patients.
Most important, this research will have broad applications for other genetic vision disorders.
As always, The Vision of Children Foundation would also like to note that without your contributions, this research would cease to exist. We are incredibly thankful for your support of a cure which is literally within sight! You can help secure this future by donating now.